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| | <StructureSection load='6y30' size='340' side='right'caption='[[6y30]], [[Resolution|resolution]] 2.65Å' scene=''> | | <StructureSection load='6y30' size='340' side='right'caption='[[6y30]], [[Resolution|resolution]] 2.65Å' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[6y30]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Y30 OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=6Y30 FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[6y30]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6Y30 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6Y30 FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SRP54 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> | + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.65Å</td></tr> |
| - | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=6y30 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6y30 OCA], [http://pdbe.org/6y30 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6y30 RCSB], [http://www.ebi.ac.uk/pdbsum/6y30 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6y30 ProSAT]</span></td></tr> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6y30 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6y30 OCA], [https://pdbe.org/6y30 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6y30 RCSB], [https://www.ebi.ac.uk/pdbsum/6y30 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6y30 ProSAT]</span></td></tr> |
| | </table> | | </table> |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/SRP54_HUMAN SRP54_HUMAN]] Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). | + | [https://www.uniprot.org/uniprot/SRP54_HUMAN SRP54_HUMAN] Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). |
| | <div style="background-color:#fffaf0;"> | | <div style="background-color:#fffaf0;"> |
| | == Publication Abstract from PubMed == | | == Publication Abstract from PubMed == |
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| | | | |
| | ==See Also== | | ==See Also== |
| - | *[[Signal recognition particle protein|Signal recognition particle protein]] | + | *[[Signal recognition particle 3D structures|Signal recognition particle 3D structures]] |
| | == References == | | == References == |
| | <references/> | | <references/> |
| | __TOC__ | | __TOC__ |
| | </StructureSection> | | </StructureSection> |
| - | [[Category: Human]] | + | [[Category: Homo sapiens]] |
| | [[Category: Large Structures]] | | [[Category: Large Structures]] |
| - | [[Category: Juaire, K D]] | + | [[Category: Juaire KD]] |
| - | [[Category: Sinning, I]] | + | [[Category: Sinning I]] |
| - | [[Category: Wild, K]] | + | [[Category: Wild K]] |
| - | [[Category: Disease mutant]]
| + | |
| - | [[Category: Protein translocation]]
| + | |
| - | [[Category: Rna binding protein]]
| + | |
| - | [[Category: Severe congenital neutropenia]]
| + | |
| - | [[Category: Srp54 ng domain]]
| + | |
| Structural highlights
Function
SRP54_HUMAN Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein).
Publication Abstract from PubMed
The SRP54 GTPase is a key component of co-translational protein targeting by the signal recognition particle (SRP). Point mutations in SRP54 have been recently shown to lead to a form of severe congenital neutropenia displaying symptoms overlapping with those of Shwachman-Diamond syndrome. The phenotype includes severe neutropenia, exocrine pancreatic deficiency, and neurodevelopmental as well as skeletal disorders. Using a combination of X-ray crystallography, hydrogen-deuterium exchange coupled to mass spectrometry and complementary biochemical and biophysical methods, we reveal extensive structural defects in three disease-causing SRP54 variants resulting in critical protein destabilization. GTP binding is mostly abolished as a consequence of an altered GTPase core. The mutations located in conserved sequence fingerprints of SRP54 eliminate targeting complex formation with the SRP receptor as demonstrated in yeast and human cells. These specific defects critically influence the entire SRP pathway, thereby causing this life-threatening disease.
Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.,Juaire KD, Lapouge K, Becker MMM, Kotova I, Michelhans M, Carapito R, Wild K, Bahram S, Sinning I Structure. 2020 Oct 13. pii: S0969-2126(20)30333-6. doi:, 10.1016/j.str.2020.09.008. PMID:33053321[1]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
See Also
References
- ↑ Juaire KD, Lapouge K, Becker MMM, Kotova I, Michelhans M, Carapito R, Wild K, Bahram S, Sinning I. Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia. Structure. 2020 Oct 13. pii: S0969-2126(20)30333-6. doi:, 10.1016/j.str.2020.09.008. PMID:33053321 doi:http://dx.doi.org/10.1016/j.str.2020.09.008
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